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Diagnosis of Mitochondrial diseases

Mitochondrial diseases Diagnosis: Book Excerpts

• Ask the Following Questions - RESPIRATION ABNORMALITIES
• Ask the Following Questions - PUPIL ABNORMALITIES
• Differential Diagnosis - Abnormal Head Shape
• Approach to the Diagnosis - DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES
• History - Pap Smear Abnormality
• Differential Overview - Prostate Abnormality
• Approach to the Diagnosis - DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES

Diagnostic Tests for Mitochondrial diseases: Online Medical Books

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RESPIRATION ABNORMALITIES: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Is the respiration rapid? The presence of rapid respiration indicates dyspnea and may be caused by shock, congestive heart failure, asthma, emphysema, and other disorders.
2. Is the respiration slow? The presence of slow respiration should suggest diabetes mellitus, alcoholic stupor, uremia, opium poisoning, cerebral concussion, and metabolic acidosis from other causes.
3. Are the breaths irregular or alternating fast and slow? This would suggest Cheyne-Stokes respiration or Biot's breathing, and the causes to consider are coma, congestive heart failure, uremia, tuberculosis, bacterial meningitis, typhoid fever, chorea, and many other conditions.
4. Are the breaths deep or shallow? The presence of deep respiration should suggest metabolic acidosis due to diabetes mellitus, renal failure, alcoholic stupor, or respiratory alkalosis from salicylate intoxication. The presence of shallow respiration would suggest uremia, opium poisoning, and concussion.

DIAGNOSTIC WORKUP

The basic workup includes a CBC, sedimentation rate, urinalysis, chemistry panel, EKG, chest x-ray, urine drug screen, blood alcohol level, arterial blood gases, and pulmonary function tests. If there is fever, blood cultures, febrile agglutinins, and tuberculin and other skin tests may be ordered. If there is coma, further diagnostic workup may be found on page 84 . If there is dyspnea, further diagnostic workup may be found on page 131 .

 

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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

PUPIL ABNORMALITIES: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Are both pupils dilated? The presence of dilated pupils in an otherwise normal subject would suggest drug intoxication such as phenobarbital, marijuana, and PCP. However, the patient may not know that he or she had a concussion recently. Also, glaucoma may cause dilatation of both pupils.
2. Are both pupils constricted? The presence of constricted pupils would suggest narcotic intoxication.
3. Is one pupil dilated? The presence of a dilated pupil should suggest oculomotor nerve palsy such as may be due to a ruptured aneurysm or intracranial hematoma. However, if the pupil reacts to light and accommodation, a local condition such as iritis, glaucoma, anisocoria, or irritation of the cervical sympathetic nerves must be considered. If the pupil reacts to accommodation but not to light, then central nervous system syphilis must be suspected. If there is no reaction to light or accommodation, blindness must be considered due to optic nerve lesions.
4. If one pupil is dilated, does it react to light and accommodation? This finding would suggest a local condition such as iritis, glaucoma, anisocoria, or irritation of the cervical sympathetic nerves.
5. Is one pupil constricted? The presence of a constricted pupil would suggest Horner's syndrome.
6. Is there ptosis? The presence of ptosis with a constricted pupil would suggest Horner's syndrome. If there is no ptosis with the constricted pupil, a brain stem lesion such as syringomyelia, tumor, abscess, or encephalitis must be considered.
7. Is there blindness? The presence of blindness with a dilated pupil would suggest optic nerve lesions.

DIAGNOSTIC WORKUP

Patients with bilateral dilated or constricted pupils should have a urine drug screen and possibly a blood test for alcohol level. If there is fever or a history of trauma with dilated or constricted pupils or other pupillary abnormalities, a neurologist or neurosurgeon should be consulted immediately before ordering expensive diagnostic tests.

Primary eye conditions can be excluded by tonometry, slit lamp examination, or ophthalmology consultation. Intracranial neoplasms and aneurysms must be excluded by CT scans, MRIs, and possibly angiography. A spinal tap will help diagnose central nervous system lues or multiple sclerosis. VEP studies will help diagnose multiple sclerosis. The workup for Horner's syndrome can be found on page 227 .

 

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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Abnormal Head Shape: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Caput succedaneum
• Cephalohematoma
• Plagiocephaly (flattening on one side of the head) usually positional
• Macrocephaly
  –Neurofibromatosis
  –Sotos syndrome
  –Achondroplasia
  –Robinow syndrome
• Hydrocephalus (excess cerebrospinal fluid)
• External hydrocephalus (benign extradural fluid collection)
• Microcephaly
  –Autosomal dominant form
  –Autosomal recessive form
  –Cornelia de Lange syndrome
  –Cri-du-chat syndrome
  –Smith-Lemli-Opitz syndrome
  –Fetal alcohol syndrome
  –Congenital infection (e.g., CMV, HSV)
• Linear skull fracture
• Craniostenosis (associated syndromes)
  –Crouzon syndrome
  –Apert syndrome
  –Ataxia-telangiectasia
  –Hyperthyroidism
  –Idiopathic hypercalcemia
  –Mucopolysaccharidosis
  –Rickets
  –Sickle cell disease
  –Thalassemia major
• Scaphocephaly/dolicocephaly (long, narrow head)
• Brachycephaly (broad head)
• Oxycephaly (pointed head)
• Acrocephaly (high, tower-like head)
• Trigonocephaly (triangular head)
• Clover-leaf skull
• Forehead bowing (large lateral ventricles)
• Narrow calvarium (temporal lobe agenesis)
• Small posterior fossa (cerebellar agenesis)
• Occipital bowing (Dandy-Walker malformation)
• Bitemporal widening—subdural hematoma in infancy
• Cranial meningocele

Workup and Diagnosis

• History
  –Time of onset (birth vs soon after); birth trauma, including prolonged labor, instrumentation; history of intrauterine infection; family history of macrocephaly, microcephaly, genetic disorders, neurocutaneous syndromes, cranial vault abnormalities, associated limb abnormalities (syndactyly)
• Physical exam
  –Visual inspection of skull, swelling, palpation of sutures for osseous ridge, pulsation, cranial bruits, abnormal transillumination
  –Skin discoloration in newborns
  –Signs of increased intracranial pressure
  –Other findings: Skeletal dysplasia, eye abnormalities, organomegaly, neurocutaneous signs
  • Labs
    –Consider genetic testing and chromosomal analysis, amino acid screen, serologies for intrauterine infection
  • Studies
    –Do emergently with acute change in responsiveness or decreased upgaze (“sunsetting”) sign
    –X-ray of skull will show skull fractures or a band of increased bone density at prematurely closed sutures
    –CT in children with craniostenosis of multiple sutures or coexisting intracranial abnormalities; also better for evaluating skull dysplasias

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The association of other symptoms and signs is all important. A triiodothyronine (T3) level, total thyroxine (T4) level, and free thyroxine index (FT4), a urine for porphobilinogen, serum electrolytes, toxicology screen, lead level, 24-hour urine, 17-ketosteroid level, and 17-hydroxycorticosteroid level should be done on anyone suspected of having endogenous depression. (Possibly all depressed patients should get this screen.) Skull x-ray film, EEG, CT scan and even a spinal tap [to rule out multiple sclerosis (MS) and lues] may be worthwhile when other neurologic signs are present.

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Source: Differential Diagnosis in Primary Care, 2007

Pap Smear Abnormality: History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

 Gynecologic history, which is essential in determining a patient’s risk, should be shared with the cytopathologist. Risk factors include early age at first intercourse or pregnancy, immunosuppression of any cause, human immunodeficiency virus infection, human papilloma virus (HPV), smoking, multiple sexual partners, and a history of lower genital tract neoplasia (5).

Physical examination

The cervix usually appears normal to the naked eye. Gross cervical abnormalities should prompt further evaluation. When present, discharge should be gently removed prior to the pap smear. Tests for sexually transmitted diseases, when indicated, should be obtained after the pap smear. If the cervix appears normal, vaginitis can be treated and the smear obtained after resolution of the discharge (5).

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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

Prostate Abnormality: Differential Overview
(Field Guide to Bedside Diagnosis)

❑ Benign prostatic hypertrophy

❑ Acute bacterial prostatitis

❑ Chronic prostatitis

❑ Adenocarcinoma

❑ Prostatic calculus

❑ Prostatic abscess

Diagnostic Approach

History helps in risk stratification: Men with a first degree relative with prostate cancer have a 2 to 3 fold increased incidence of prostate cancer. With 2 first degree relatives, this increases 5 to 8 fold.

The normal prostate is heart-shaped with a median raphe and a mass of 20 to 25 g. Carefully examine the posterior surfaces of the lateral lobes because this is where most prostate cancer originates. In screening for prostate cancer, digital rectal examination (DRE) looking for nodules, induration, or asymmetry may help to calibrate PSA values in the “gray zone” of 4 to 10. For example, a large gland may offer an explanation for a mildly elevated PSA, but a small gland or one with induration or asymmetry should heighten suspicion of prostate cancer. The positive predictive value for prostate cancer of an abnormal finding on DRE is 15% to 30%, increasing odds 1.5- to 2-fold. Because of low sensitivity, the value of a negative DRE to rule out prostate cancer is low. Men with an abnormality on DRE and a PSA ,4 still have a probability of prostate cancer of 12%, so biopsy is usually recommended. Examination followed by biopsy of any prostate nodule is the appropriate tactic because the clinical examination alone is not accurate enough in distinguishing benign causes from adenocarcinoma.

New suspicious findings on DRE in a patient with an initial negative baseline helps to select for aggressive tumors. Cancer found based on the first DRE has a 5 year prostate cancer mortality of 3% and 10 year mortality of 14%. Cancer found on a subsequent DRE has mortalities of 19% and 43% respectively.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The association of other symptoms and signs is all important. A triiodothyronine (T₃) level, total thyroxine (T₄) level, and free thyroxine index (FT₄), a urine for porphobilinogen, serum electrolytes, toxicology screen, lead level, 24-hour urine, 17-ketosteroid level, and 17-hydroxycorticosteroid level should be done on anyone suspected of having endogenous depression. (Possibly all depressed patients should get this screen.) Skull x-ray film, EEG, CT scan, and even a spinal tap (to rule out multiple sclerosis [MS] and lues) may be worthwhile when other neurologic signs are present. case presentation #14 A 62-year-old white woman is brought to your office because the family has noticed that she is depressed. The patient has insomnia, frequent nightmares, and weight loss over the past 6 months despite the fact that she has a good appetite.

» READ BOOK EXCERPT ONLINE »

Source: Differential Diagnosis in Primary Care, 2007

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